|LETTER TO EDITOR
|Year : 2021 | Volume
| Issue : 2 | Page : 152-153
Crouzon syndrome: A rare case report in perimenopausal women - Correspondence
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
|Date of Submission||29-Jun-2021|
|Date of Acceptance||01-Nov-2021|
|Date of Web Publication||17-Aug-2021|
Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Post-graduate Institute of Medical Sciences, Lucknow - 226 014, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Nilay M. Crouzon syndrome: A rare case report in perimenopausal women - Correspondence. J Indira Gandhi Inst Med Sci 2021;7:152-3
To the Editor,
With great interest, I read this case report by Kumari et al. but would like to highlight the importance of exact molecular diagnosis in such rare conditions as craniosynostosis, which are genetically heterogeneous.
Clinical features in the index patient are suggestive of FGFR-related craniosynostosis syndromes. Most of the features such as sutural craniosynostosis, proptosis, hypertelorism, and midface hypoplasia can be seen in varying spectrum in all these syndromes apart from other typical findings specific to some such as syndactyly in Apert and other typical hand/feet abnormality seen in Peiffer, Muenke, or Jackson–Weiss syndrome. Crouzon syndrome patients generally manifest mild symptoms as compared to others such as Apert. Most cases have normal intellect with good reproductive potential, and it is not rare for a Crouzon syndrome patient to live till 4th–5th decade of life.
Further, while describing such dysmorphology syndromes, authors should use HPO terms (https://hpo.jax.org/app/) or use of elements of morphology (https://elementsofmorphology.nih.gov/). FGFR1, FGFR2, and various other growth factors play an important role in uterine epithelium architecture and known to affect myometrial pathophysiology (reported in many animal and human studies). It is highly likely that the mutation in FGFR2 may have resulted in this phenotype of craniosynostosis and leiomyoma. Mosaicism (germinal as well as somatic) is known in patients with Crouzon syndrome.
For such cases with genetic heterogeneity, a multigene panel test or exome sequencing will be ideal to establish the diagnosis. Cost and availability are constraints in this part of the country, however, the test cost is ever decreasing and next-generation sequencing is readily available nowadays. The National Policy for Rare Diseases, 2021 has proposed establishment of a Medical Genetics Department in one medical college of every state; thus, days are not far when patients from Bihar will have easy access to management of such genetic disorders.
A proper molecular diagnosis is not only important for the treatment and surveillance but also for the family (prenatal diagnosis and preimplantation genetic diagnosis). Crouzon and other similar syndromes of this spectrum have an autosomal dominant mode of inheritance. Thus, there can be a risk of recurrence up to 50%, a family diagnosis can be offered to at-risk individuals (once mutation is known in the proband), and they can be put on active surveillance for anticipated complications. However, caution should be exercised while offering such tests in affected families due to the variable presentations of these disorders (mild to severe). Hence, a pretest and posttest genetic counseling is must.
Crouzon syndrome and others such as Apert syndrome have an increased incidence with increased paternal age as seen in other genetic conditions such as achondroplasia, thanatophoric dysplasia, MEN2A, and MEN2B. As this patient underwent surgery, the typical anesthetic complications that are expected in this disorder need a mention (multilevel airway obstructions). A skeletal survey is also warranted in such patients to rule out cervical instability and other deformities such as radiohumeral synostosis.
It is praiseworthy that clinicians are identifying the importance of reporting rare genetic disorders and associated findings. However, with a little more effort on diagnosis and detailed pathophysiology discussion, the impact of such case reports would be highly beneficial for medical students to understand the approach to such disorders, which involve multidisciplinary management.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
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